Details of Disease | DrugMAP

General Information of Disease (ID: DISXHFIL)

Disease Name	Craniometaphyseal dysplasia, autosomal recessive
Synonyms	CMDR; craniometaphyseal dysplasia, autosomal recessive type; autosomal recessive craniometaphyseal dysplasia; craniometaphyseal dysplasia, autosomal recessive
Definition	Autosomal recessive form of craniometaphyseal dysplasia.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISK6EZQ: Craniometaphyseal dysplasia DISXHFIL: Craniometaphyseal dysplasia, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009035 MESH ID C536570 UMLS CUI C2931244 OMIM ID 218400 MedGen ID 419753

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Limited	Autosomal recessive	[1]
GJA1	TT4F7SL	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJA1	OTT94MKL	Limited	Autosomal recessive	[1]
ANKH	OTCN25R5	Definitive	Biomarker	[3]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
3	Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.